ISCN 2009: an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
Basel [u.a.]
Karger
2009
|
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | Includes bibliographical references and index |
| Beschreibung: | VI, 138 S. Ill. |
| ISBN: | 9783805589857 3805589859 |
Internformat
MARC
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| 020 | |a 9783805589857 |c pbk. : alk. paper |9 978-3-8055-8985-7 | ||
| 020 | |a 3805589859 |9 3-8055-8985-9 | ||
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| 245 | 1 | 0 | |a ISCN 2009 |b an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |c ed.: Lisa G. Shaffer... |
| 264 | 1 | |a Basel [u.a.] |b Karger |c 2009 | |
| 300 | |a VI, 138 S. |b Ill. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 500 | |a Includes bibliographical references and index | ||
| 650 | 7 | |a Cytogenetik - Medizinische Nomenklatur |2 swd | |
| 650 | 7 | |a Medizinische Nomenklatur - Cytogenetik |2 swd | |
| 650 | 4 | |a Human cytogenetics |v Nomenclature | |
| 650 | 4 | |a Human cytogenetics |v Terminology | |
| 650 | 4 | |a Human chromosomes |v Nomenclature | |
| 650 | 4 | |a Human chromosomes |v Terminology | |
| 650 | 4 | |a Human chromosome abnormalities |v Nomenclature | |
| 650 | 4 | |a Human chromosome abnormalities |v Terminology | |
| 650 | 4 | |a Cytogenetics |v Terminology |x English | |
| 700 | 1 | |a Shaffer, Lisa G. |e Sonstige |4 oth | |
| 710 | 2 | |a Standing Committee on Human Cytogenetic Nomenclature |e Sonstige |0 (DE-588)2053732-3 |4 oth | |
| 856 | 4 | 2 | |m Digitalisierung UB Regensburg |q application/pdf |u http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017327011&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |3 Inhaltsverzeichnis |
| 999 | |a oai:aleph.bib-bvb.de:BVB01-017327011 | ||
Datensatz im Suchindex
| _version_ | 1804138836763082752 |
|---|---|
| adam_text | Table
of Contents
1
Historical Introduction
..................................................................... 1
1.1 1956-1984............................................................................................ 1
1.2 1985-1995............................................................................................ 4
1.3 1996-2004............................................................................................ 4
1.4 2005-2009............................................................................................ 5
2
Normal Chromosomes
..................................................................... 6
2.1
Introduction
.......................................................................................... 6
2.2
Chromosome Numberand Morphology
..................................................... 6
2.2.1
Non-Banding Techniques
........................................................................
б
2.2.2
Banding Techniques
............................................................................... 7
2.2.3
X-and Y-Chromatin
................................................................................ 8
2.3
Chromosome Band Nomenclature
............................................................ 9
2.3.1
Identification and Definition of Chromosome Landmarks, Regions, and Bands
.. 9
2.3.2
Designation of Regions, Bands, and Sub-Bands
........................................... 10
2.4
High-Resolution Banding
........................................................................ 12
2.5
Molecular Basis of Banding
...................................................................... 15
3
Symbols and Abbreviated Terms
.................................................... 36
4
Karyotype Designation
.................................................................... 39
4.1
General Principles
.................................................................................. 39
4.2
Specification of Breakpoints
..................................................................... 41
4.3
Designating Structural Chromosome Aberrations by Breakpoints and
Band Composition
................................................................................. 42
4.3.1
Short System for Designating Structural Chromosome Aberrations
................. 42
4.3.1.1
Two-Break Rearrangements
..................................................................... 42
4.3.1.2
Three-Break Rearrangements
................................................................... 43
4.3.1.3
Four-Break and More Complex Rearrangements
.......................................... 44
4.3.2
Detailed System for Designating Structural Chromosome Aberrations
............. 44
4.3.2.1
Additional Symbols
................................................................................ 44
4.3.2.2
Designating the Band Composition of a Chromosome
.................................. 45
4.4
Derivative Chromosomes
........................................................................ 45
4.5
Recombinant
Chromosomes
.................................................................... 46
s
Uncertainty in
Chromosome
or Band Designation
........................ 49
5.1
Questionable Identification
..................................................................... 49
5.2
Uncertain Breakpoint Localization or Chromosome Number
.......................... 50
5.3
Alternative Interpretation
........................................................................ 50
5.4
Incomplete Karyotype
............................................................................ 51
6
Order of Chromosome Abnormalities in the Karyotype
................ 52
7
Normal Variable Chromosome Features
......................................... 53
7.1
Variation in Heterochromatic Segments, Satellite Stalks, and Satellites
............ 53
7.1.1
Variation in Length
................................................................................. 53
7.1.2
Variation in Number and Position
............................................................. 53
7.2
Fragile Sites
.......................................................................................... 54
8
Numerical Chromosome Abnormalities
.......................................... 55
8.1
General Principles
.................................................................................. 55
8.2
Sex Chromosome Abnormalities
............................................................... 56
8.3
Autosomal Abnormalities
........................................................................ 57
8.4
Uniparental Disomy.
............................................................................... 58
9
Structural Chromosome Rearrangements
...................................... 59
9.1
General Principles
.................................................................................. 59
9.2
Specification of Structural Rearrangements
................................................ 60
9.2.1
Additional Material of Unknown Origin
...................................................... 60
9.2.2
Deletions
.............................................................................................. 61
9.2.3
Derivative Chromosomes
........................................................................ 62
9.2.4
Dicentric Chromosomes
.......................................................................... 67
9.2.5
Duplications
......................................................................................... 69
9.2.6
Fission
................................................................................................. 69
9.2.7
Fragile Sites
.......................................................................................... 69
9.2.8
Homogeneously Staining Regions
............................................................ 70
9.2.9
Insertions
............................................................................................. 71
9.2.10
Inversions
............................................................................................. 72
9.2.11
Isochromosomes
................................................................................... 72
9.2.12
Marker Chromosomes
............................................................................. 73
9.2.13
Neocentromeres
.................................................................................... 74
9.2.14
Quadruplicates
................................................................................... 75
9.2.15
Ring Chromosomes
................................................................................ 75
9.2.16
Telomeric Associations
........................................................................... 77
9.2.17
Translocations
....................................................................................... 77
9.2.17.1
Reciprocal
Translocations
........................................................................ 77
9.2.17.2
Whole-Arm
Translocations
....................................................................... 80
9.2.17.3
Robertsonian
Translocations
.................................................................... 81
9.2.17.4
Jumping
Translocations
.......................................................................... 82
9.2.18
Tricentric Chromosomes
......................................................................... 82
9.2.19
Triplications
.......................................................................................... 82
9.3
Multiple Copies of Rearranged Chromosomes
............................................. 83
IV ISCN 200S>
10
Chromosome
Breakage
.................................................................... 85
10.1
Chromatid Aberrations
........................................................................... 85
10.1.1
Non-Banded Preparations
....................................................................... 85
10.1.2
Banded Preparations
.............................................................................. 86
10.2
Chromosome Aberrations
....................................................................... 86
10.2.1
Non-Banded Preparations
....................................................................... 86
10.2.2
Banded Preparations
.............................................................................. 87
10.3
Scoring of Aberrations
............................................................................ 87
11 Neoplasia
.......................................................................................... 88
11.1
Clones and Clonal Evolution
.................................................................... 88
11.1.1
Definition of a Clone
............................................................................... 88
11.1.2
Clone Size
............................................................................................. 89
11.1.3
Mainline
............................................................................................... 89
11.1.4
Stemline, Sideline and Clonal Evolution
..................................................... 89
11.1.5
Composite Karyotype
............................................................................. 92
11.1.6
Unrelated Clones
................................................................................... 93
11.2
Modal Number
...................................................................................... 94
11.3
Constitutional Karyotype
......................................................................... 95
12
Meiotic Chromosomes
..................................................................... 97
12.1
Terminology
......................................................................................... 97
12.1.1
Examples of Meiotic Nomenclature
........................................................... 98
12.1.2
Correlation between Meiotic Chromosomes and Mitotic Banding Patterns
....... 100
13
In situ Hybridization
........................................................................ 105
13.1
Introduction
.......................................................................................... 105
13.2
List of Symbols and Abbreviations
............................................................ 105
13.3
Prophase/Metaphase in situ Hybridization (ish)
........................................... 106
13.3.1
Use of dim and enh
................................................................................ 111
13.3.2
Subtelomeric Metaphase in situ Hybridization
............................................ 111
13.4
Interphase/Nuclear in situ Hybridization
(nuc
ish)
........................................ 111
13.4.1
Number of Signals
.................................................................................. 112
13.4.2
Relative Position of Signals
...................................................................... 115
13.4.2.1
Single Fusion Probes
.............................................................................. 117
13.4.2.2
Single Fusion with Extra Signal Probes
....................................................... 117
13.4.2.3
Dual Fusion Probes
................................................................................ 117
13.4.2.4
Break-Apart Probes
................................................................................ 117
13.5
In situ Hybridization on Extended Chromatin/DNA Fibers (fib ish)
................... 118
13.6
Reverse in situ Hybridization (rev ish)
........................................................ 118
13.6.1
Chromosome Analyses Using Probes Derived from Sorted or Microdissected
Chromosomes
....................................................................................... 119
13.7
Chromosome Comparative Genomic Hybridization (cgh)
.............................. 119
13.8
Multi-Color Chromosome Painting
............................................................ 120
13.9
Partial Chromosome Paints
...................................................................... 120
Table of Contents
14
Copy Number Detection
.................................................................. 121
14.1
Microarray and Multiple Ligation-Dependent Probe Amplification (MLPA)
....... 121
14.2
List of Symbols and Abbreviations
............................................................ 121
14.3
Examples of Microarray Nomenclature
....................................................... 122
14.4
Examples of MLPA Nomenclature
............................................................. 128
15
References
........................................................................................ 129
16
Members of the ISCN Standing Committee and Consultants
........ 131
17
Appendix
.......................................................................................... 133
18
Index
................................................................................................. 135
VI
|
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| id | DE-604.BV035406455 |
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| indexdate | 2024-07-09T21:34:31Z |
| institution | BVB |
| institution_GND | (DE-588)2053732-3 |
| isbn | 9783805589857 3805589859 |
| language | English |
| lccn | 2009001276 |
| oai_aleph_id | oai:aleph.bib-bvb.de:BVB01-017327011 |
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| physical | VI, 138 S. Ill. |
| publishDate | 2009 |
| publishDateSearch | 2009 |
| publishDateSort | 2009 |
| publisher | Karger |
| record_format | marc |
| spelling | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer... Basel [u.a.] Karger 2009 VI, 138 S. Ill. txt rdacontent n rdamedia nc rdacarrier Includes bibliographical references and index Cytogenetik - Medizinische Nomenklatur swd Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English Shaffer, Lisa G. Sonstige oth Standing Committee on Human Cytogenetic Nomenclature Sonstige (DE-588)2053732-3 oth Digitalisierung UB Regensburg application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017327011&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature Cytogenetik - Medizinische Nomenklatur swd Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English |
| title | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_auth | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_exact_search | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| title_full | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer... |
| title_fullStr | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer... |
| title_full_unstemmed | ISCN 2009 an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature ed.: Lisa G. Shaffer... |
| title_short | ISCN 2009 |
| title_sort | iscn 2009 an international system for human cytogenetic nomenclature 2009 recommendations of the international standing committee on human cytogenetic nomenclature |
| title_sub | an international system for human cytogenetic nomenclature (2009) ; recommendations of the International Standing Committee on Human Cytogenetic Nomenclature |
| topic | Cytogenetik - Medizinische Nomenklatur swd Medizinische Nomenklatur - Cytogenetik swd Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English |
| topic_facet | Cytogenetik - Medizinische Nomenklatur Medizinische Nomenklatur - Cytogenetik Human cytogenetics Nomenclature Human cytogenetics Terminology Human chromosomes Nomenclature Human chromosomes Terminology Human chromosome abnormalities Nomenclature Human chromosome abnormalities Terminology Cytogenetics Terminology English |
| url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=017327011&sequence=000004&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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